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Cystic Fibrosis is one of the UK's most common inherited diseases and is life-threatening.

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Ben Mercer Cystic Fibrosis Introduction Cystic Fibrosis is one of the UK's most common inherited diseases and is life-threatening. Cystic Fibrosis affects over 8,500 people in the UK however over two million people in the UK carry the faulty gene that causes Cystic Fibrosis. If two carriers have a child, the baby has a 1 in 4 chance of having Cystic Fibrosis. Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus, this makes it hard to breathe and digest food. Every week 2 people die due to cystic Fibrosis. Around half of the CF population can expect to live over 38 years, although new treatments mean a baby born today could expect to live even longer.(1) Cause A defect in the CFTR gene is the cause of cystic fibrosis. The CFTR gene makes proteins which control salt and water transportation through the cell membrane. In people who have CF, the different coding of the gene means a different protein is made which ant perform the same tasks. ...read more.


Infections are also caused by the continual build-up of mucus in the lungs, which provides an ideal breeding ground for bacteria. The mucus can also lead to blockages in the pancreas which means digestive enzymes cannot be produced causing the food to not digest properly. If the digestive enzymes are not being produced, food is not adequately digested and excess fat is lost in the stools, making them bulky, oily, smelly and difficult to flush away. Malnutrition is also a problem. Because the body cannot digest essential nutrients in food (particularly fat), it is often difficult to gain weight and infants may struggle to put on weight and grow. Adults with cystic fibrosis often find it difficult to gain and maintain weight. Cystic Fibrosis can also cause diabetes in older people and rarely in the younger. In older people the pancreas can become more damaged. Diabetes can develop if the pancreas does not produce enough insulin. Diabetes in people with cystic fibrosis is different from diabetes in people without cystic fibrosis. Usually, the symptoms of diabetes include feeling constantly thirsty, frequently needing to pass urine and feeling extremely tired. ...read more.


Main treatments used at the moment to reduce the effects of CF include; * Regular antibiotics to counter lung infections * Mucolytics such as Dornase alfa to make the mucus in your lungs less sticky * Asthma therapy, such as bronchodilators, to help treat blocked airways and breathing problems that may have been caused by infections * Insulin therapy for diabetes, to help your body break down sugar properly so you can maintain a healthy weight * Physiotherapy to help develop breathing techniques that reduce the effect of the mucus * Regular exercise is suggested to help develop the lungs. * Enzymes being given in supplements to help with digestion (4) * Lung transplant in severe cases (3) Gene therapy is being worked on to remove the affects of Cystic Fibrosis. It works by modifying DNA so it has the correct CFTR gene, this means the body can then create the correct protein then inserting it in the body However currently there are no indefinite cures for CF and people are living longer with it due to improved techniques. This has caused new problems to become apparent and new treatments have to be developed. ...read more.

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